Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. 25383899 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 24718990 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR The genetic landscape of high-risk neuroblastoma. 23334666 2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 23756559 2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Juvenile myelomonocytic leukemia (JMML) is an intractable pediatric leukemia with poor prognosis whose molecular pathogenesis is poorly understood, except for somatic or germline mutations of RAS pathway genes, including PTPN11, NF1, NRAS, KRAS and CBL, in the majority of cases. 23832011 2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature. 22371576 2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D. 22315187 2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR [Clinical and molecular study of the Noonan syndrome]. 23513489 2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605 2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. 22711529 2012
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		1.000 CausalMutation disease CLINVAR KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways. 21169357 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Genetic disruption of the scaffolding protein, Kinase Suppressor of Ras 1 (KSR1), differentially regulates GM-CSF-stimulated hyperproliferation in hematopoietic progenitors expressing activating PTPN11 mutants D61Y and E76K. 21555152 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase. 21365683 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 20954246 2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR A suggested role for mitochondria in Noonan syndrome. 19835954 2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes. 20112233 2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells. 20651068 2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis. 19008228 2009
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		1.000 CausalMutation disease CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. 19352411 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		1.000 CausalMutation disease CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918 2009